Huntingtons Disease HD

HD is an autosomal-dominant inherited disorder, localized to the short arm of chromosome 4. It is characterized by a CAG trinucleotide repeat. Children of affected individuals that also express the gene show anticipation. Anticipation is an expansion of the trinucleotide repeat, resulting in earlier onset and more severe symptoms. Huntington's disease typically manifests in the third and fourth decades and is characterized by movement disorders and cognitive decline. Depression and high rates of suicide are also noted. The movement disorders can be varied, although most patients manifest with chorea.

Chorea, as seen in HD, is thought to result from loss of striatal projection neurons to the GPe. In early HD, there is reduced inhibition of GPe and increased inhibition of the STN. There is reduced inhibitory output from the GPi and SNr to the thalamus. In more advanced HD, stri-atal projections to the GPi also degenerate, causing reduced chorea and development of bradykinesia.

Pallidotomy has been attempted in HD with dystonia [26]. Although there was some symptomatic improvement, the background of dementia and the underlying progression of the disease make this a short-term solution. Surgical treatment with transplantation has been studied in a small number of patients [27]. Motor and cognitive functions were improved in three out of five patients who underwent bilateral fetal neuroblast transplantation in the striatum. Further work is needed in this area.

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